Chromosomal Microarray Analysis - Tissue

Casandra

Casandra Test Code BA48117Version 1 (DRAFT)

Performing Lab

Lab Baylor GeneticsLab Test ID 8639CPT Code 81229

Chromosomal Microarray Analysis - Tissue

Clinical Use

Use

Chromosomal Microarray Analysis - Tissue is aimed at detecting copy number variations in products of conception (POC) including identifiable fetal parts and placenta, which can aid in diagnosing the underlying etiology of pregnancy loss. This analysis is beneficial for confirming clinical diagnoses through minimized maternal cell contamination. The assay benefits patients by providing insight into chromosomal abnormalities that may influence pregnancy outcomes. The test assists healthcare providers in making informed clinical decisions, enhancing patient care by identifying potential genetic factors contributing to pregnancy complications.

Special Instructions

For optimal results, it is essential to accompany the POC sample with maternal blood in an EDTA tube for analysis of maternal cell contamination (MCC). The laboratory recommends that the specimen be sent promptly to ensure accuracy in the testing process.

Limitations

Unbalanced genomic rearrangements such as deletions or duplications less than 1 Mb in size and absence of heterozygosity (AOH) regions smaller than 10-15 Mb are typically not reported. Consequently, the assay may miss detecting low-level mosaicism, balanced chromosome rearrangements such as translocations, inversions, or insertions. Other genomic alterations such as uniparental heterodisomy and imprinting defects may also fall outside the test's scope. As such, while this assay provides significant insight, it should be utilized with an understanding of its limitations in detecting certain genetic abnormalities.

Test Details

New York Approved